Results 1 to 10 of about 3,969 (139)

Pantothenate Kinase Associated Neurodegeneration in Two Brothers

Acta Médica Portuguesa, 2015
Keywords: Neurodegenerative Diseases; Phosphotransferases (Alcohol Group Acceptor); Siblings.
Bruno Niemeyer de Freitas Ribeiro, Tiago Medina Salata, Lívia de Oliveira Antunes, Beatriz Salata Antunes   +3 more
doaj   +1 more source

Focus on Clinical and Genetic Aspects of PKAN Through the Description of New Patients. [PDF]

Genes (Basel)
Giuliano M, Borgione E, Lo Giudice M, Di Blasi FD, Santa Paola S, Vitello GA, Elia M, Russo R, Romano C, Scuderi C.   +9 more
europepmc   +1 more source

Deoxyguanosine kinase deficiency and recurrent spontaneous pneumothorax: a case report. [PDF]

J Med Case Rep, 2023
Ramboux A, Poncelet A, Clapuyt P, Scheers I, Sokal E, Reding R, Stephenne X.   +6 more
europepmc   +1 more source

Ceramide kinase suppresses ferroptosis and protects against alcohol-associated liver disease through the p38 MAPK-HSPB1 pathway. [PDF]

Hepatol Commun
Tao Y, Wang H, Peng Y, Chen Y, Liu X, Qi G, Wang H, Bai L, Qian Y.   +8 more
europepmc   +1 more source

Dual Resistance to Maribavir and Ganciclovir in Transplant Recipients. [PDF]

Viruses
Kleiboeker SB.
europepmc   +1 more source

Characterization of the Pank2-/- mouse retinal phenotype as a pre-clinical model for pantothenate kinase-associated neurodegeneration. [PDF]

PLoS One
Su GL, Jeong SY, Wafai D, Tschetter W, Zhen D, Hayflick SJ, Ryals RC.   +6 more
europepmc   +1 more source

Evaluating the effects of synthetic POM cycles and NAD+ kinase expression on fatty alcohol production in Saccharomyces cerevisiae. [PDF]

PLoS One
McNeil BA, Khalifa C, Krishnan A, Stuart DT.   +3 more
europepmc   +1 more source

Role of Ceramide Kinase/C1P in the Regulation of Cell Growth and Survival. [PDF]

Int J Mol Sci
Gomez-Larrauri A, Benito-Vicente A, Larrea-Sebal A, Martín C, Gomez-Muñoz A.   +4 more
europepmc   +1 more source

Structural basis for catalysis and selectivity of phospholipid synthesis by eukaryotic choline-phosphotransferase. [PDF]

Nat Commun
Roberts JR, Horibata Y, Kwarcinski FE, Lam V, Raczkowski AM, Hubbard A, White B, Sugimoto H, Tall GG, Ohi MD, Maeda S.   +10 more
europepmc   +1 more source

Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis. [PDF]

Mol Genet Genomic Med
Nakamura K, Yatsuka Y, Naito S, Hasegawa A, Kasukawa T, Kondo A, Kishita Y, Sugiyama Y, Onuki T, Ebihara T, Tsuruoka T, Fushimi T, Ohtake A, Murayama K, Imai-Okazaki A, Okazaki Y.   +15 more
europepmc   +1 more source